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DEN 7208 Oral Cancer > Exam 1: Genetics and Epigenetics in Cancer > Flashcards

Exam 1: Genetics and Epigenetics in Cancer Flashcards

1
Q

What are some examples of inherited or familial cancer syndromes?

A
  • Hereditary breast and ovarian cancers: BRCA1 and BRCA2
  • Li-Fraumeni syndrome: TP53 (inherited group of P53 mutations)
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2
Q

What percentage of cancers are estimated to involve acquired mutations by the American Cancer Society?

A

90-95%
(Commonly cell cycle or apoptosis regulators)

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3
Q

What are two factors associated with smoking that enhances de novo DNA methylation?

A
  • Polycyclic aromatic hydrocarbons (PAH)
  • Nicotine-derived nitrosamines (NDN)
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4
Q

How are DNA methylation enzymes directly influenced by PAH and NDN?

A
  • DNA methylation regulation down-regulated (DNMT1; differentiation)
  • DNA methyltransferase activation (DNMT3; de-differentiation)
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5
Q

What is CIMP?

A

CpG island methylator phenotype

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6
Q

What are some examples of DNMT3 activation that may be expressed?

A
  • Carcinoembryonic antigen (CEA)
  • Glypican-3
  • alpha-fetoprotein (AFP)

Removal of methylation marks on developmental genes

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7
Q

DNA methylation dysregulation can cause methylation of normal tissue function genes, such as:

A
  • p53 can be extensively methylated (codons 248, 273 are CpG rich exons)
  • p53 expression may be lost
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8
Q

What happens to DNMT1 activity in many smoking-related cancers?

A

Down regulated

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9
Q

What mid stage genetic events are associated with an intermediate risk of developing oral cancer?

A
  • 3p12: FHIT
  • 9p21: p16
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9
Q

What happens to CpG methylation with DNMT3 dysregulation?

A

Increases (CIMP)

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10
Q

How are DNA repair enzymes affected by DNMT3 dysregulation?

A

Down regulated (methylated)

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11
Q

The frequency of replication errors affected by DNMT3 dysregulation is ____

A

Increased

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12
Q

If there is no loss of heterozygosity, there is a ____ risk of developing cancer

A

Low risk

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13
Q

How common is a 3p12; FHIT allelic imbalance (mutation) in HNSCC?

A

70-90%

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13
Q

3p12 loss is critical among the ____ events of progression

A

Earliest

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14
Q

What is p16?

A

Inhibitor of cyclin CDK

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15
Q

What is FHIT?

A

Fragile Histidine Triad gene (CpG methylated in 3p12 alteration)

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16
Q

What is the most commonly deleted/mutated DNA region in HNSCC?

A

9p21

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17
Q

What does p16 have?

A
  • CpG-rich promoter region
  • Exons 1 and 2 are also CpG rich
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18
Q

What does p16 inactivation lead to?

A

G1/S cell cycle progression
(associated with 9p21)

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19
Q

What are some of the high risk, late stage genetic events associated with additional loss of heterozygosity?

A
  • 17p:p53
  • 8p:p14/p19
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20
Q

What do 17p deletions or mutations involve?

A

p53 (tumor suppressor)

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21
Q

Who are p53 mutations 300% more likely in?

A

CpG exons in smokers than non-smokers

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22
Q

What do 8p deletions/mutations remove?

A

p14/p19

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23
Q

p14/p19 contain ____ in the promoter and exons

A

CpG-rich islands

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24
Q

____ transversions are more common in non-tobacco oral cancers

A

G to A transversions

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25
Q

Methylation and DNA mutations:
Where are G to T transversions common?

A

Methylated CpG sites

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26
Q

What does CIMP lead to?

A
  • Site-specific mRNA downregulation
  • DNA mutation (transversion)
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27
Q

What is the function of HOTAIR IncRNA overexpression?

A

Acts as a scaffold for histone demethylase

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28
Q

What are exosomes?

A

Microparticles 30-100 nm that contain miRNAs (found in all body fluids)

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29
Q

Which microRNA has intracellular and exosome positive control?

A

miR-16

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29
Q

____ is the most frequently upregulated microRNA in solid tumors, considered “onco-miR”

A

miR-21

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30
Q

____ has differential expression among cancers (promotes liver, lung, skin; inhibits bone, brain breast)

A

miR-365

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31
Q

Ras activation is associated with:

A

miR-21 that binds and turns off PTEN (tumor suppressor)

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32
Q

____ modulates pluripotency factors (NANOG) in stem cells and DNMT3 expression in cancers

A

miR-720

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33
Q

What two microRNAs are commonly expressed in oral cancers (OSCC)?

A

miR-21 and miR-365

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34
Q

miR-21 expression is reduced by:

A

Melatonin (MLT)

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35
Q

Where is miR-365 expressed?

A

Intracellularly

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36
Q

Where does differential exosome expression occur with miR-365?

A

Extracellularly

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37
Q

miR-720 is ____ expressed in oral cancer

A

Highly

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38
Q

What happens to DNMT3 in oral cancers?

A

Up-regulated

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39
Q

What is the correlation between miR-720 being highly expressed and DNMT3 being up-regulated in oral cancers?

A

R=0.8488 (strong correlation)

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40
Q

Chemotherapy resistant OSCC express:

41
Q

Which chemotherapy sensitive oral cancer miRNAs are expressed?

A

miR-145 and miR-155

42
Q

What miRNA do chemotherapy resistant OSCCs express?

43
Q

What do chemotherapy resistant OSCCs not express?

44
Q

Chemotherapy sensitive OSCCs do not express:

45
Q

Chemotherapy sensitive OSCCs do express:

46
Q

miR-21 is considered:

A

“onco-miR,” mediates Cisplatin-resistance

47
Q

miR-720

A

Modulates growth and DNMT3 expression in oral cancers

48
Q

Genomic instability involves:

A

Hypomethylation of intergenic regions

49
Q

What happens with illegitimate recombination between repeats (genomic instability)?

A

Translocations

50
Q

What are the translocations in Burkitt’s lymphoma?

A
  • t(8;14) (c-myc on chromosome 8)
  • t(14;18) (Bcl-2 on chromosome 18)
51
Q

What gene on chromosome 8 is associated with the t(8,14) translocation with Burkitt’s lymphoma?

52
Q

What type of translocation for Burkitt’s lymphoma is associated with Bcl-2?

A

t(14,18) translocation

53
Q

What is lymphoma?

A

A blood cancer where lymphoma cells multiply and collect in your lymph nodes and other tissues. Over time, these cancerous cells impair your immune system

54
Q

What is leukemia?

A

A type of cancer found in blood and bone marrow, caused by rapid production of abnormal white blood cells, which impairs the ability of bone marrow to produce red blood cells and platelets

55
Q

Myeloid leukemia originates in ____ and myeloid precursor cells that give rise to ____

A

Myeloid cells (granulocytes); macrophages, neutrophils, and basophils

56
Q

What is myeloma?

A

A blood cancer that specifically targets your plasma cells. Myeloma cells prevent the normal production of antibodies, leaving your body’s immune system weakened and susceptible to infection

57
Q

What type of onset and progression does acute myeloid leukemia have?

A

Rapid onset and progression (fatal)

58
Q

Where does AML typically develop?

A

Among monocyte or granulocyte precursors

59
Q

Is AML more common in men or women?

60
Q

Rate of therapy-related acute myeloid leukemia (AML) is ____

61
Q

What are some symptoms of AML?

A
  • Fatigue
  • Bruising
  • Pallor
62
Q

What is an example of anti-cancer chemotherapy that can be used for AML?

63
Q

Oral symptom of AML

A

Gingival hypertrophy (swelling)

64
Q

AML induced effects have ____ onset

A

Rapid (days or weeks)

65
Q

How is an AML diagnosis made?

A
  • Abnormal CBC (complete blood count)
  • Abnormal blood smear
  • Leukocytosis (excess of abnormal WBC)
  • Auer rods
  • Lack of granulocytosis
66
Q

What percentage of oral and dental alterations are identified in AML patients?

A

More than 90%

66
Q

What is one option for treatment of AML?

A

Anthracycline (topoisomerase inhibitor)

67
Q

What happens in pediatric patients who take anthracycline?

A
  • Impairs odontogenesis
  • Microdontia in second premolars and second molars
68
Q

What is the chromosomal translocation associated with chronic myeloid leukemia (CML)?

A
  • Philadelphia chromosome
  • t(9:22)
69
Q

Is the fusion gene BCR-ABL on or off with chronic myeloid leukemia?

A

Always on –> cell divides uncontrollably

70
Q

Most patients (men) diagnosed at CML ____ stage through ____

A

Chronic stage; elevated WBC

71
Q

Blast phase of CML often includes:

A

Hepatosplenomegaly

71
Q

What are some ways that CML can be diagnosed?

A
  • Abnormal CBC (complete blood count)
  • Granulocytosis excess of PMN
  • Philadelphia chromosome t(9;22)
72
Q

What is an oral symptom associated with CML thrombocytopenia?

A

Oral mucosal petechiae

73
Q

What is the only curative treatment for CML?

A

Allogeneic stem cell transplant

74
Q

Acute lymphoblastic leukemia (ALL) has ____ onset in _____

A

Rapid onset in children

75
Q

Is the fusion gene BCR-ABL tyrosine kinase on or off with ALL?

75
Q

Where does ALL develop?

A

Among immature lymphoblasts

76
Q

What chromosome is involved with ALL?

A

Philadelphia chromosome reciprocal translocation t(9:22)

77
Q

What is the most common cancer in children?

78
Q

What are the risk factors for developing ALL?

A
  • Exposure to ionizing radiation
  • Li-Fraumeni syndrome
79
Q

What are the oral symptoms associated with ALL?

A
  • Fatigue, bruising, pallor
  • Gingival hypertrophy (leukemic cell infiltration)
80
Q

Regarding ALL, ____ onset is key

81
Q

How is ALL diagnosed?

A
  • Abnormal CBC (complete blood count)
  • Lymphocytosis (abnormal bone marrow biopsy)
82
Q

What is the only curative treatment for ALL?

A

Allogeneic stem cell transplant

83
Q

Chronic lymphocytic leukemia (CLL) develops among:

A

B-lymphocytes

84
Q

What are the two types of CLL?

A
  • IGVH mutated
  • IGVH non-mutated
85
Q

Does IGVH mutated CLL have a good or poor prognosis?

A

Poor, reduced treatment responsiveness

86
Q

Is CLL usually symptomatic or asymptomatic?

A

Asymptomatic (found through abnormal WBC counts)

87
Q

What is a less common symptom of CLL?

A

Enlarged lymph nodes

88
Q

How are most CLL patients diagnosed?

A
  • Through elevated lymphocytes > 15,000/mm^3
  • Hypogammaglobulinemia without SCID
89
Q

CLL has a ____ onset

90
Q

What would be present in a peripheral blood smear of someone with CLL?

A

Smudge cells

91
Q

What happens during MM development?

A

Immunoglobin heavy chain, oncogene translocation

91
Q

What is chronic lymphocytic leukemia closely related to?

A

Multiple myeloma

92
Q

What do MM abnormal plasma cells produce?

A

Abnormal antibodies

93
Q

________ is strongly linked to MM

94
Q

What can MM lead to?

A
  • Kyphosis
  • Raindrop skull
95
Q

Common symptoms of MM

A

Pain, numbness, swelling of the jaw

96
Q

MM treatment

A

Bisphosphonates which inhibit bone resorption

97
Q

What is the risk when taking bisphosphonates?

A

Medication-related osteonecrosis of the jaw (MRONJ)

98
Q

In addition to the BCR-ABL fusion gene, what other fusion gene is present in ALL?

A

ETV6-RUNX fusion protein t(12;21)

DEN 7208 Oral Cancer (10 decks)

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